Product Details

SNP ID

rs146523768

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:77102856 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTTGGGCCATGGCGGAGGACAGGC[C/T]GCAGCAGCCGCAGCTGGACATGCCG

Phenotype

MIM: 602537 MIM: 164340

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CAPN5 PubMed Links

Gene Details

Gene

CAPN5

Gene Name

calpain 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004055.4	17	Intron			NP_004046.2
XM_011545225.1	17	Intron			XP_011543527.1
XM_017018223.1	17	Intron			XP_016873712.1

Gene

OMP

Gene Name

olfactory marker protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006189.1	17	Missense Mutation	CCG,CTG	P6L	NP_006180.1

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